Tyrosinemia II: Lessons in Molecular Pathophysiology

The Metabolic Basis of Inherited Disease.

1983 • 2,885 citations

On the enzymic defects in hereditary tyrosinemia.

1977 • 453 citations

Tyrosinemia with plantar and palmar keratosis and keratitis

1973 • 114 citations

Soluble and mitochondrial forms of tyrosine aminotransferase. Relation to human tyrosinemia

1969 • 99 citations

Neue Sonderformen von Keratosis palmo-plantaris, u. a. eine regelmäßig-dominante mit systematisierten Lipomen, ferner 2 einfach-rezessive mit Schwachsinn und z.T. mit Hornhautveränderungen des Auges (Ektodermalsyndrom)

1947 • 76 citations

New special forms of keratosis palmo-plantaris, u. a., a regularly g-dominant with systematized lipomas, furthermore 2 simple-recessive with idiocy and z. T. with corneal changes in the eye (ectodermal syndrome).

1947 • 71 citations

Studies on the Biochemistry of Epidermis IV. The Free Amino Acids, Ammonia, Urea, and Pyrrolidone Carboxylic Acid Contest of Conventional and Germ-Free Albino Guinea Pig Epidermis

1970 • 71 citations

Metabolic Studies in a Patient with Hepatic Cytosol Tyrosine Aminotransferase Deficiency

1971 • 57 citations

Animal Models of Inherited Metabolic Diseases

1983 • 53 citations

Tyrosinemia with acute intermittent porphyria: Aminolevulinic acid dehydratase deficiency related to elevated urinary aminolevulinic acid levels

1977 • 50 citations

Richner-Hanhart syndrome (tyrosinaemia-II) (report of four cases without ocular involvement)

1981 • 47 citations

Richner-Hanhart's Syndrome: Ultrastructural Abnormalities of Epidermal Keratinization Indicating a Causal Relationship to High Intracellular Tyrosine Levels

1982 • 46 citations

Studies on the effect of l‐tyrosine on the white rat

1947 • 45 citations

Hepatic Enzymes of Tyrosine Metabolism in Tyrosinemia II

1979 • 44 citations

Skin lesions in tyrosinosis: response to dietary treatment

2006 • 43 citations

Soluble Tyrosine Aminotransferase Deficiency: An Unusual Cause of Corneal Ulcers

1972 • 37 citations

Richner-Hanhart Syndrome and Tyrosinemia Type II

1980 • 35 citations

TYROSINOSIS: A PATIENT WITHOUT LIVER OR RENAL DISEASE

1971 • 35 citations

Tyrosine-Induced Eye and Skin Lesions

1976 • 31 citations

The Richner-Hanhart Syndrome

1976 • 30 citations

Tyrosine-induced eye and skin lesions. A treatable genetic disease.

1976 • 29 citations

Crystals in corneal epithelial lesions of tyrosine-fed rats.

1975 • 27 citations

The Palms and Soles in Medicine.

1968 • 27 citations

Effect of Threonine on the Toxicity of Excess Tyrosine and Cataract Formation in the Rat

1966 • 26 citations

Tyrosine aminotransferase isoenzyme deficiency

1979 • 26 citations

Excess dietary tyrosine and corneal lesions

1973 • 23 citations

Molecular Biology and Molecular Pathology of a Newly Described Molecular Disease – Tyrosinemia II (The Richner-Hanhart Syndrome)

1978 • 22 citations

Screening for Disorders of Tyrosine Metabolism

1980 • 20 citations

Acute hereditary tyrosinaemia type I: Clinical, biochemical and haematological studies in twins

1980 • 18 citations

Oculocutaneous tyrosinosis. Report of two cases in the same family.

1977 • 14 citations

EYE AND SKIN LESIONS IN TYROSINÆMIA

1973 • 14 citations

Haemolysis induced by tyrosine crystals: Modifiers and inhibitors

1976 • 13 citations

Hemolysis and lysosomal activation by solid state tyrosine

1975 • 12 citations

Tyrosine aminotransferase deficiency in mink (Mustela vision): A model for human tyrosinemia II

1981 • 11 citations

BILATERAL KERATOPATHY AND TYROSINOSIS

1975 • 11 citations

Increased need for L-cysteine in hereditary tyrosinemia

1979 • 8 citations

Tyrosinemia without liver or renal damage with plantar and palmar keratosis and keratitis (hypertyrosinemia type II).

1979 • 8 citations

Steroids Influencing the Toxicity of L-Tyrosine

1971 • 6 citations

Fall 62. Richner-Hanhart-Syndrom. (Keratosis palmo-plantaris arcata mit herpoider Hornhautdystrophie)

1964 • 5 citations

Die Cornea beim Richner-Hanhart Syndrom

1972 • 5 citations

Richner-Hanhart Syndrome (RHS) — Tyrosinemia Type II and Oral Aromatic Retinoid (Ro 10-9359). Report of two Cases

1981 • 4 citations

[The cornea in Richner-Hanhart's syndrome].

1972 • 2 citations

[Report on a case of hypertyrosinemia and tyrosinuria].

1974 • 1 citations